Cellosaurus cell line SMBCi014-A (CVCL

Cross-references
Cell line name	SMBCi014-A
Accession	CVCL_B7E2
Resource Identification Initiative	To cite this cell line use: SMBCi014-A (RRID:CVCL_B7E2)
Comments	From: Shandong Medical Biotechnological Center; Jinan; China. Derived from site: In situ; Urine; UBERON=UBERON_0001088.
Sequence variations	Mutation; HGNC; HGNC:2197; COL1A1; Simple; p.Pro817Leufs*291 (c.2450delC); ClinVar=VCV000035912; Zygosity=Heterozygous (PubMed=35660813).
Disease	Osteogenesis imperfecta type I (NCIt: C99003) Osteogenesis imperfecta type 1 (ORDO: Orphanet_216796)
Species of origin	Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell	Female
Age at sampling	15Y
Category	Induced pluripotent stem cell
Publications	PubMed=35660813; DOI=10.1016/j.scr.2022.102827 Jing Luan, Ya-Zhou Cui, Jing Wang, Yan-Chen Liang, Ya-Nan Zhao, Geng-Lin Zhang, Jin-Xiang Han; Generation of a non-integrated induced pluripotent stem cell line from urine cells of a Chinese osteogenesis imperfecta type I patient. Stem Cell Res. 62:102827-102827(2022)
Cell line databases/resources	hPSCreg; SMBCi014-A
Biological sample resources	BioSamples; SAMEA13603429
Encyclopedic resources	Wikidata; Q112930410
Entry history
Entry creation	23-Jun-2022
Last entry update	19-Dec-2024
Version number	5